Canonical Allele Identifier: CA359125388

Gene: NSUN2

Linked Data

• MyVariant Identifiers: chr5:g.6620285T>A (hg19) ; chr5:g.6620172T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6620172T>A , CM000667.2:g.6620172T>A	GRCh38
NC_000005.9:g.6620285T>A , CM000667.1:g.6620285T>A	GRCh37
NC_000005.8:g.6673285T>A	NCBI36
NG_028215.1:g.18189A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.749A>T MANE Select	ENSP00000264670.6:p.Gln250Leu
ENST00000264670.10:c.749A>T	ENSP00000264670.6:p.Gln250Leu
ENST00000504374.5:c.*55A>T	ENSP00000421783.1:n.*55A>T
ENST00000505264.1:n.416A>T
ENST00000505892.5:n.1318A>T
ENST00000506139.5:c.644A>T	ENSP00000420957.1:p.Gln215Leu
NM_001193455.1:c.644A>T	NP_001180384.1:p.Gln215Leu
NM_017755.5:c.749A>T	NP_060225.4:p.Gln250Leu
NR_037947.1:n.1045A>T
NM_017755.6:c.749A>T MANE Select	NP_060225.4:p.Gln250Leu
NM_001193455.2:c.644A>T	NP_001180384.1:p.Gln215Leu
NR_037947.2:n.729A>T